ijms-logo

Journal Browser

Journal Browser

Advances in the Molecular Diagnosis and Treatment of Neurodegenerative Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 20 January 2026 | Viewed by 606

Special Issue Editor


E-Mail Website
Guest Editor
1. CNC—Center for Neurosciences and Cell Biology, University of Coimbra, 3004-504 Coimbra, Portugal
2. CIBB—Centre for Innovative Biomedicine and Biotechnology, University of Coimbra, 3004-504 Coimbra, Portugal
Interests: proteomics; translational biomarkers; neurodegenerative disorders

Special Issue Information

Dear Colleagues, 

Neurodegenerative diseases comprise a diverse group of disorders characterized by progressive neuronal dysfunction and loss, affecting both the central and peripheral nervous systems. These conditions, including Alzheimer's disease and Parkinson's disease (PD), represent a major global health burden, particularly as life expectancy increases. Despite extensive research, the molecular mechanisms underlying neurodegeneration remain incompletely understood, and effective therapeutic options are still lacking. Advances in molecular diagnostics, such as biomarker identification, imaging techniques, and omics-based approaches, are improving early disease detection and classification. Simultaneously, targeted molecular therapies, including gene and cell-based treatments, are emerging as promising strategies to modify disease progression. 

This Special Issue will explore recent advances in molecular diagnostics and therapeutic interventions in neurodegenerative diseases. We welcome contributions focusing on novel biomarkers, cutting-edge diagnostic technologies, and innovative treatment strategies designed to delay, halt, or reverse neurodegeneration. A major focus will be placed on pre-clinical and clinical manuscripts that provide translational insights into disease mechanisms, diagnostic tools, and potential therapeutic approaches.

Dr. Bruno Manadas
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neurodegenerative disorders
  • biomarkers
  • treatment
  • omics
  • systems biology

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:

Other

6 pages, 192 KB  
Case Report
Long-Term Efficacy of Bilateral Globus Pallidus Internus Deep Brain Stimulation in Myoclonus-Dystonia Associated with KCNN2 Gene Mutation: A Case Study
by Olga Stodulska, Lukasz Milanowski, Dariusz Koziorowski, Tomasz Mandat and Stanislaw Szlufik
Int. J. Mol. Sci. 2025, 26(16), 7736; https://doi.org/10.3390/ijms26167736 - 10 Aug 2025
Viewed by 443
Abstract
Dystonia-myoclonus syndrome is a rare neurological condition characterized by involuntary muscle contractions and myoclonic jerks, significantly impairing daily functioning. Pharmacological management is often ineffective, prompting consideration of alternative therapeutic interventions such as deep brain stimulation (DBS). This report describes a novel clinical case [...] Read more.
Dystonia-myoclonus syndrome is a rare neurological condition characterized by involuntary muscle contractions and myoclonic jerks, significantly impairing daily functioning. Pharmacological management is often ineffective, prompting consideration of alternative therapeutic interventions such as deep brain stimulation (DBS). This report describes a novel clinical case involving a 38-year-old female with severe dystonic and myoclonic symptoms associated with a pathogenic mutation in the KCNN2 gene (DYT34). Bilateral DBS targeting the internal segment of the globus pallidus (GPi) resulted in marked and sustained symptom improvement, notably reducing dystonic posturing and myoclonic movements over the 24-month follow-up period. Neuropsychological and neurologopedic assessments revealed no adverse effects on cognition or speech. This represents the first sufficient effect of GPi-DBS in a patient with a genetically confirmed KCNN2 mutation, highlighting its potential efficacy and underscoring the need for genetic testing in patients presenting with dystonia-myoclonus syndromes. Full article
Back to TopTop